panel Noonan syndrome / RASopathy

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
Remarks
Panel includes the following genes: A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SOS1, SHOC2, SPRED1. The recently published Noonan(-like) genes SOS2, LZTR1 and PPP1CB are not included in this panel at this moment, but can be requested separately.

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA




€ 1359

Products Conditions Multiple congenital anomalies (MCA) Noonan syndrome
Panel

panel Noonan syndrome / RASopathy

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 1359

panel Noonan syndrome / RASopathy



€ 1359
Gene

A2ML1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 899

A2ML1 - Noonan syndrome



€ 899

A2ML1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

this product is often ordered in combination with:

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610627
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 899
Gene

CBL - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 688

CBL - Noonan syndrome



€ 688

CBL - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613563
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 688
Gene

KRAS - Noonan syndrome

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

KRAS - Noonan syndrome



€ 587

KRAS - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis & Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 609942
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

LZTR1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 766

LZTR1 - Noonan syndrome



€ 766

LZTR1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600574
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 766
Gene

NRAS - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 576

NRAS - Noonan syndrome



€ 576

NRAS - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613224
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 576
Gene

PPP1CB - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 631

PPP1CB - Noonan syndrome



€ 631

PPP1CB - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 631
Gene

PTPN11 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 699

PTPN11 - Noonan syndrome



€ 699

PTPN11 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 163950
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699
Gene

RAF1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 722

RAF1 - Noonan syndrome



€ 722

RAF1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 611553
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 722
Gene

RIT1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 565

RIT1 - Noonan syndrome



€ 565

RIT1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 609591
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 565
Gene

RRAS - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 575

RRAS - Noonan syndrome



€ 575

RRAS - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 165090
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 575
Gene

SHOC2 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 553

SHOC2 - Noonan syndrome



€ 553

SHOC2 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of selected exons and flanking intron-exon boundaries
Remarks
In the SHOC2 gene only 1 mutation has been described. Therefore only this exon is analyzed.

OMIM: 607721
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 553
Gene

SOS1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 800

SOS1 - Noonan syndrome



€ 800

SOS1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610733
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 800
Gene

SOS2 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 777

SOS2 - Noonan syndrome



€ 777

SOS2 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601247
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 777